News

People with hereditary transthyretin (ATTRv) amyloidosis, which includes familial amyloid polyneuropathy, experience multiple medical issues prior to diagnosis, with potential ATTRv markers commonly appearing in the year before, according to a recent study. A better understanding of patient experiences may help speed its recognition and diagnosis. The study, “…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Symptoms related to familial amyloid polyneuropathy (FAP) and other forms of hereditary transthyretin (ATTR) amyloidosis were found in African American and Hispanic or Latinx individuals who unknowingly carried a disease-related genetic variant revealed by genomic screening, according to a recent study.

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

AT-01, an imaging agent being developed by Attralus, can help to differentiate between transthyretin (ATTR) amyloidosis — which includes familial amyloid polyneuropathy (FAP) — and other forms of amyloidosis, new clinical trial data indicate. The findings were presented in a poster, “Detection of Systemic AL…

Vutrisiran, a second-generation RNA interference (RNAi) therapy candidate, safely and effectively reduces neurologic impairment and improves physical function and quality of life in adults with familial amyloid polyneuropathy (FAP). That’s according to top-line, nine-month data from the global HELIOS-A Phase 3 trial. Alnylam Pharmaceuticals, Vutrisiran’s developer, plans…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Benzbromarone (BBM), a medicine used to treat gout, can stabilize the TTR protein to the same degree as therapies used to treat people with familial amyloid polyneuropathy (FAP), a study showed. These findings support the further development of…

The case of a woman of Afro-Caribbean descent with early onset transthyretin (TTR) amyloidosis, who was found to carry a TTR mutation more commonly seen in those of Celtic descent, showed that this disorder can be more varied than previously known. Titled “Early-Onset of Transthyretin Amyloidosis in…

PRX004, an investigational treatment by Prothena, can reduce the progression of nerve damage (neuropathy) and improve heart function in people with hereditary transthyretin amyloidosis (ATTR), which includes familial amyloid polyneuropathy (FAP), according to results from a Phase 1 trial. “We are pleased to see evidence of both a slowing…